Canonical Allele Identifier: CA2326051253

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830100G= , CM000681.2:g.17830100G=	GRCh38
NC_000019.9:g.17940909G= , CM000681.1:g.17940909G=	GRCh37
NC_000019.8:g.17801909G=	NCBI36
NG_007273.1:g.22892C= , LRG_77:g.22892C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+8C=	ENSP00000513006.1:n.*1764+8C=
ENST00000696967.1:n.2384+8C=
ENST00000696968.1:n.440+8C=
ENST00000696969.1:n.2164+8C=
ENST00000458235.7:c.3207+8C= MANE Select	ENSP00000391676.1:n.3207+8C=
ENST00000458235.5:c.3207+8C=	ENSP00000391676.1:n.3207+8C=
ENST00000527031.5:n.2279-4790C=
ENST00000527670.5:c.3207+8C=	ENSP00000432511.1:n.3207+8C=
ENST00000534444.1:c.3215C=	ENSP00000436421.1:p.Ala1072=
NM_000215.3:c.3207+8C= , LRG_77t1:c.3207+8C=	NP_000206.2:n.3207+8C=
XM_005259896.2:c.3336+8C=	XP_005259953.1:n.3336+8C=
XM_006722745.2:c.3207+8C=	XP_006722808.1:n.3207+8C=
XM_005259896.3:c.3336+8C=	XP_005259953.1:n.3336+8C=
NM_000215.4:c.3207+8C= MANE Select	NP_000206.2:n.3207+8C=